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Article

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.

Human genomics - 22 Mar 2023

Li Ziyan, Huang Zhenyi, Liu Yanxia, Cao Yunshan, Li Yating, Fang Yanping, Huang Meiying, Liu Zixi, Lin Lijuan, Jiang Lingxiao

Abstract excerpt

BACKGROUND: G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity. This study aimed to analyse the genotypic and phenotypic characteristics of G6PD deficiency in Guangzhou, China. METHODS: In this study, a total of 20,208 unrelated participants were...

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Identifiers

PMID: 36949502
DOI: 10.1186/s40246-023-00473-9
PMCID: PMC10035184

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Source receipt: pubmed, retrieved 7 Sept 2026.

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